ClinVar for MedGen (Select 934581) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584879	NM_138348.6(OTULIN):c.349T>C (p.Phe117Leu)	OTULIN (F117L)	Single nucleotide variant (missense variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	GUncertain significance
Select item 1706584	NM_138348.6(OTULIN):c.500G>C (p.Trp167Ser)	OTULIN	Single nucleotide variant (missense variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	GPathogenic
Select item 1706583	NM_138348.6(OTULIN):c.258G>A (p.Met86Ile)	OTULIN	Single nucleotide variant (missense variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	GPathogenic
Select item 1706582	NM_138348.6(OTULIN):c.841G>A (p.Gly281Arg)	OTULIN	Single nucleotide variant (missense variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	GPathogenic
Select item 1706581	NM_138348.6(OTULIN):c.864+2T>C	OTULIN	Single nucleotide variant (splice donor variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	GPathogenic
Select item 1602085	NM_138348.6(OTULIN):c.469-10G>C	OTULIN	Single nucleotide variant (intron variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1493560	NM_138348.6(OTULIN):c.1052G>A (p.Ser351Asn)	OTULIN (S351N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1168721	NM_138348.6(OTULIN):c.230-15T>A	OTULIN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1027709	NM_138348.6(OTULIN):c.553G>T (p.Val185Phe)	OTULIN (V185F)	Single nucleotide variant (missense variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	GUncertain significance
Select item 1027708	NM_138348.6(OTULIN):c.22C>T (p.Gln8Ter)	OTULIN (Q8*)	Single nucleotide variant (nonsense)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	GPathogenic
Select item 717847	NM_138348.6(OTULIN):c.996C>G (p.Leu332=)	OTULIN	Single nucleotide variant (synonymous variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome +1 more	GBenign/Likely benign
Select item 254126	NM_138348.6(OTULIN):c.731A>G (p.Tyr244Cys)	OTULIN (Y244C)	Single nucleotide variant (missense variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome +1 more	GPathogenic; risk factor
Select item 254125	NM_138348.6(OTULIN):c.517del (p.Gly174fs)	OTULIN (G174fs)	Deletion (frameshift variant)	Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection +1 more	GPathogenic; risk factor
Select item 254124	NM_138348.6(OTULIN):c.815T>C (p.Leu272Pro)	OTULIN (L272P)	Single nucleotide variant (missense variant)	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	GPathogenic